ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573071223
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340125.1:p.Arg75His
CA5293229
NM_001353196.2:c.224G>A